Introduction

Overview

Organization

Scope

Moving Forward

PART I: THE ESSENTIALS

Chapter 1. The Essentials on Refsum Disease: Guidelines

Overview

What Is Refsum Disease?

Is There Any Treatment?

What Is the Prognosis?

What Research Is Being Done?

Selected References

For More Information

More Guideline Sources

Vocabulary Builder

Chapter 2. Seeking Guidance

Overview

Associations and Refsum Disease

Finding More Associations

Finding Doctors

Finding a Neurologist

Selecting Your Doctor

Working with Your Child’s Doctor

Broader Health-Related Resources

Vocabulary Builder

PART II: ADDITIONAL RESOURCES AND ADVANCED MATERIAL

Chapter 3. Studies on Refsum Disease

Overview

Federally-Funded Research on Refsum Disease

E-Journals: PubMed Central

The National Library of Medicine: PubMed

Vocabulary Builder

Chapter 4. Books on Refsum Disease

Overview

Book Summaries: Online Booksellers

The National Library of Medicine Book Index

Chapters on Refsum Disease

General Home References

Vocabulary Builder

PART III. APPENDICES

Appendix A. Researching Your Child’s Medications

Overview

Your Child’s Medications: The Basics

Learning More about Your Child’s Medications

Commercial Databases

Contraindications and Interactions (Hidden Dangers)

A Final Warning

General References

Appendix B. Researching Nutrition

Overview

Food and Nutrition: General Principles

Finding Studies on Refsum Disease

Federal Resources on Nutrition

Additional Web Resources

Vocabulary Builder

Appendix C. Finding Medical Libraries

Overview

Preparation

Finding a Local Medical Library

Medical Libraries Open to the Public

Appendix D. Your Child’s Rights and Insurance

Overview

Your Child’s Rights as a Patient

Parent Responsibilities

Choosing an Insurance Plan

Medicaid

NORD’s Medication Assistance Programs

Additional Resources

Vocabulary Builder

ONLINE GLOSSARIES

Online Dictionary Directories

REFSUM DISEASE GLOSSARY

General Dictionaries and Glossaries

INDEX

Overview

Dr. C. Everett Koop, former U.S. Surgeon General, once said, “The best prescription is knowledge.” The Agency for Healthcare Research and Quality (AHRQ) of the National Institutes of Health (NIH) echoes this view and recommends that all parents incorporate education into the treatment process. According to the AHRQ:

Finding out more about your [child’s] condition is a good place to start. By contacting groups that support your [child’s] condition, visiting your local library, and searching on the Internet, you can find good information to help guide your decisions for your [child’s] treatment. Some information may be hard to find—especially if you don’t know where to look.

As the AHRQ mentions, finding the right information is not an obvious task. Though many physicians and public officials had thought that the emergence of the Internet would do much to assist parents in obtaining reliable information, in March 2001 the National Institutes of Health issued the following warning:

The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading.

Since the late 1990s, physicians have seen a general increase in parent Internet usage rates. Parents frequently enter their children’s doctor’s offices with printed Web pages of home remedies in the guise of latest medical research. This scenario is so common that doctors often spend more time dispelling misleading information than guiding children through sound therapies. The Official Parent’s Sourcebook on Refsum Disease has been created for parents who have decided to make education and research an integral part of the treatment process. The pages that follow will tell you where and how to look for information covering virtually all topics related to Refsum disease, from the essentials to the most advanced areas of research.

The title of this book includes the word “official.” This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on Refsum disease.

Given parents’ increasing sophistication in using the Internet, abundant references to reliable Internet-based resources are provided throughout this sourcebook. Where possible, guidance is provided on how to obtain free-of-charge, primary research results as well as more detailed information via the Internet. E-book and electronic versions of this sourcebook are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). Hard copy users of this sourcebook can type cited Web addresses directly into their browsers to obtain access to the corresponding sites. Since we are working with ICON Health Publications, hard copy Sourcebooks are frequently updated and printed on demand to ensure that the information provided is current.

In addition to extensive references accessible via the Internet, every chapter presents a “Vocabulary Builder.” Many health guides offer glossaries of technical or uncommon terms in an appendix. In editing this sourcebook, we have decided to place a smaller glossary within each chapter that covers terms used in that chapter. Given the technical nature of some chapters, you may need to revisit many sections. Building one’s vocabulary of medical terms in such a gradual manner has been shown to improve the learning process.

We must emphasize that no sourcebook on Refsum disease should affirm that a specific diagnostic procedure or treatment discussed in a research study, patent, or doctoral dissertation is “correct” or your child’s best option. This sourcebook is no exception. Each child is unique. Deciding on appropriate options is always up to parents in consultation with their children’s physicians and healthcare providers.

Organization

This sourcebook is organized into three parts. Part I explores basic techniques to researching Refsum disease (e.g. finding guidelines on diagnosis, treatments, and prognosis), followed by a number of topics, including information on how to get in touch with organizations, associations, or other parent networks dedicated to Refsum disease. It also gives you sources of information that can help you find a doctor in your local area specializing in treating Refsum disease. Collectively, the material presented in Part I is a complete primer on basic research topics for Refsum disease.

Part II moves on to advanced research dedicated to Refsum disease. Part II is intended for those willing to invest many hours of hard work and study. It is here that we direct you to the latest scientific and applied research on Refsum disease. When possible, contact names, links via the Internet, and summaries are provided. It is in Part II where the vocabulary process becomes important as authors publishing advanced research frequently use highly specialized language. In general, every attempt is made to recommend “free-to-use” options.

Part III provides appendices of useful background reading covering Refsum disease or related disorders. The appendices are dedicated to more pragmatic issues facing parents. Accessing materials via medical libraries may be the only option for some parents, so a guide is provided for finding local medical libraries which are open to the public. Part III, therefore, focuses on advice that goes beyond the biological and scientific issues facing children with Refsum disease and their families.

Scope

While this sourcebook covers Refsum disease, doctors, research publications, and specialists may refer to your child’s condition using a variety of terms. Therefore, you should understand that Refsum disease is often considered a synonym or a condition closely related to the following:

• Disorder of Cornification 11 (phytanic Acid Type)


• Doc 11 (phytanic Acid Type)


• Heredopathia Atactica Polyneuritiformis


• Hypertrophic Neuropathy of Refsum


• Phytanic Acid Storage Disease


• Refsum Disease

In addition to synonyms and related conditions, physicians may refer to Refsum disease using certain coding systems. The International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) is the most commonly used system of classification for the world’s illnesses. Your physician may use this coding system as an administrative or tracking tool. The following classification is commonly used for Refsum disease:

• 356.3 refsum's disease

For the purposes of this sourcebook, we have attempted to be as inclusive as possible, looking for official information for all of the synonyms relevant to Refsum disease. You may find it useful to refer to synonyms when accessing databases or interacting with healthcare professionals and medical librarians.

Moving Forward

Since the 1980s, the world has seen a proliferation of healthcare guides covering most illnesses. Some are written by parents, patients, or their family members. These generally take a layperson’s approach to understanding and coping with an illness or disorder. They can be uplifting, encouraging, and highly supportive. Other guides are authored by physicians or other healthcare providers who have a more clinical outlook. Each of these two styles of guide has its purpose and can be quite useful.

As editors, we have chosen a third route. We have chosen to expose you to as many sources of official and peer-reviewed information as practical, for the purpose of educating you about basic and advanced knowledge as recognized by medical science today. You can think of this sourcebook as your personal Internet age reference librarian.

Why “Internet age”? When their child has been diagnosed with Refsum disease, parents will often log on to the Internet, type words into a search engine, and receive several Web site listings which are mostly irrelevant or redundant. Parents are left to wonder where the relevant information is, and how to obtain it. Since only the smallest fraction of information dealing with Refsum disease is even indexed in search engines, a non-systematic approach often leads to frustration and disappointment. With this sourcebook, we hope to direct you to the information you need that you would not likely find using popular Web directories. Beyond Web listings, in many cases we will reproduce brief summaries or abstracts of available reference materials. These abstracts often contain distilled information on topics of discussion.

Before beginning your search for information, it is important for you to realize that Refsum disease is considered a relatively uncommon condition. Because of this, far less research is conducted on Refsum disease compared to other health problems afflicting larger populations, like breast cancer or heart disease. Nevertheless, this sourcebook will prove useful for two reasons. First, if more information does become available on Refsum disease, the sources given in this book will be the most likely to report or make such information available. Second, some will find it important to know about patient support, symptom management, or diagnostic procedures that may be relevant to both Refsum disease and other conditions. By using the sources listed in the following chapters, self-directed research can be conducted on broader topics that are related to Refsum disease but not readily uncovered using general Internet search engines (e.g. www.google.com or www.yahoo.com). In this way, we have designed this sourcebook to complement these general search engines that can provide useful information and access to online patient support groups.

While we focus on the more scientific aspects of Refsum disease, there is, of course, the emotional side to consider. Later in the sourcebook, we provide a chapter dedicated to helping you find parent groups and associations that can provide additional support beyond research produced by medical science. We hope that the choices we have made give you and your child the most options in moving forward. In this way, we wish you the best in your efforts to incorporate this educational approach into your child’s treatment plan.

The Editors